Literature DB >> 3063156

Osteogenesis imperfecta nosology and genetics.

D O Sillence1.   

Abstract

Entities:  

Mesh：

Year:  1988        PMID： 3063156     DOI： 10.1111/j.1749-6632.1988.tb55311.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


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  12 in total

1.  Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele.

Authors:  J R Lynch; D Ogilvie; L Priestley; C Baigrie; R Smith; P Farndon; B Sykes
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

Review 2.  Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation.

Authors:  D O Sillence
Journal:  Pediatr Radiol       Date:  1994

3.  Fractures at diagnosis in infants and children with osteogenesis imperfecta.

Authors:  Christopher S Greeley; Marcella Donaruma-Kwoh; Melanie Vettimattam; Christine Lobo; Coco Williard; Lynnette Mazur
Journal:  J Pediatr Orthop       Date:  2013-01       Impact factor: 2.324

4.  Accumulation of microdamage and low bone mass in the femoral head as a cause of subchondral insufficiency fracture in a patient with osteogenesis imperfecta.

Authors:  Ken Iwata; Tasuku Mashiba; Masashi Shimamura; Takanori Miki; Tetsuji Yamamoto
Journal:  J Bone Miner Metab       Date:  2019-05-11       Impact factor: 2.626

5.  Generation of collagenase-resistant collagen by site-directed mutagenesis of murine pro alpha 1(I) collagen gene.

Authors:  H Wu; M H Byrne; A Stacey; M B Goldring; J R Birkhead; R Jaenisch; S M Krane
Journal:  Proc Natl Acad Sci U S A       Date:  1990-08       Impact factor: 11.205

6.  Stapes surgery in osteogenesis imperfecta patients.

Authors:  R Dieler; J Müller; J Helms
Journal:  Eur Arch Otorhinolaryngol       Date:  1997       Impact factor: 2.503

7.  Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta.

Authors:  R Tenni; P Biglino; K Dyne; A Rossi; M Filocamo; F Pendola; P Brunelli; P Buttitta; C Borrone; G Cetta
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

8.  Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I.

Authors:  Jun Iwamoto; Yoshihiro Sato; Mitsuyoshi Uzawa; Hideo Matsumoto
Journal:  Ther Clin Risk Manag       Date:  2012-12-28       Impact factor: 2.423

9.  Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.

Authors:  Pantelis Clewemar; Nils P Hailer; Yasmin Hailer; Joakim Klar; Andreas Kindmark; Östen Ljunggren; Eva-Lena Stattin
Journal:  Mol Genet Genomic Med       Date:  2019-05-16       Impact factor: 2.183

10.  Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.

Authors:  Zeng Zhang; Mei Li; Jin-Wei He; Wen-Zhen Fu; Chang-Qing Zhang; Zhen-Lin Zhang
Journal:  PLoS One       Date:  2013-08-20       Impact factor: 3.240
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